A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv29254



Internal ID15483309
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:16682713..16726703hg38UCSC Ensembl
Outerchr1:16682288..16727390hg38UCSC Ensembl
Innerchr1:17009208..17053198hg19UCSC Ensembl
Outerchr1:17008783..17053885hg19UCSC Ensembl
Innerchr1:16881795..16925785hg18UCSC Ensembl
Outerchr1:16881370..16926472hg18UCSC Ensembl
Innerchr1:16754514..16798504hg17UCSC Ensembl
Outerchr1:16754089..16799191hg17UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg3845103
hg1945103
hg1845103
hg1745103
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9324
Supporting Variants
SamplesNA11830
Known GenesESPNP
MethodOligo aCGH
AnalysisStatistical threshold = 5.0, minimum +/- log2 ratio = 0.25 and minimum number of probes = 2
PlatformAgilent-015686 Custom Human 244K CGH Microarray
Comments
ReferencePerry_et_al_2008
Pubmed ID18304495
Accession Number(s)nssv29254
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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